IGSF1

immunoglobulin superfamily member 1

Summary

This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Known Variants150 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs765250706	X:130,407,792	A/G	—	likely benign
rs2124073740	X:130,407,826	T/A	—	uncertain significance
rs141597908	X:130,407,834	G/A	—	uncertain significance
rs753343235	X:130,407,846	C/T	—	uncertain significance
rs150776874	X:130,407,875	G/C	—	benign
rs149959109	X:130,408,086	C/G	—	likely benign
rs771084558	X:130,408,119	A/C	—	uncertain significance
rs775509128	X:130,408,127	C/G	—	uncertain significance
rs1309588455	X:130,408,142	G/A	—	pathogenic
rs2124076001	X:130,408,169	G/A	—	pathogenic
rs767189919	X:130,408,172	C/T	—	likely benign
rs6418944	X:130,408,431	T/C	—	benign
rs2522184137	X:130,408,655	G/C	—	uncertain significance
rs1064796725	X:130,408,662	A/G	—	uncertain significance
rs2522184399	X:130,408,696	C/A	—	uncertain significance
rs765697743	X:130,408,708	A/C	—	uncertain significance
rs745964986	X:130,408,737	T/C	—	conflicting classifications of pathogenicity
rs6529473	X:130,408,745	G/A	—	benign
rs146525641	X:130,408,773	C/T	—	benign
rs1220996970	X:130,408,774	G/A	—	pathogenic
rs2124080217	X:130,408,978	A/T	—	uncertain significance
rs143211470	X:130,409,069	C/T	—	benign
rs2522188216	X:130,409,071	C/G	—	uncertain significance
rs755015246	X:130,409,112	C/A	—	likely benign
rs375099908	X:130,409,129	G/A	—	likely benign
rs145402054	X:130,409,217	C/G	—	benign
rs368781680	X:130,409,228	G/A	—	uncertain significance
rs1182855463	X:130,409,507	G/C	—	uncertain significance
rs141065877	X:130,409,532	C/T	—	likely benign
rs2522193122	X:130,409,575	C/T	—	uncertain significance
rs2522193277	X:130,409,593	C/A	—	pathogenic
rs150244250	X:130,409,613	G/T	—	likely benign
rs2080464606	X:130,409,641	C/T	—	uncertain significance
rs1569401438	X:130,409,688	A/G	—	uncertain significance
rs147496468	X:130,409,697	A/G	—	benign
rs398122919	X:130,409,720	C/T	stop gained	pathogenic
rs2522194852	X:130,409,737	T/C	—	uncertain significance
rs2522194875	X:130,409,739	T/C	—	uncertain significance
rs55936630	X:130,409,884	A/T	—	benign
rs73635985	X:130,409,901	C/T	—	benign
rs374075974	X:130,409,925	C/T	—	likely benign
rs756639396	X:130,409,987	G/A	—	likely benign
rs772217311	X:130,410,077	C/T	—	likely benign
rs758619704	X:130,410,078	C/T	—	likely benign
rs183061676	X:130,410,104	C/T	—	likely benign
rs2522199206	X:130,410,221	T/A	—	uncertain significance
rs17276763	X:130,410,797	T/C	—	benign
rs368932840	X:130,410,938	G/A	—	likely benign
rs2522205216	X:130,410,942	G/A	—	uncertain significance
rs397514622	X:130,410,948	G/A	missense variant	pathogenic
rs755298160	X:130,410,963	T/C	—	uncertain significance
rs4830219	X:130,410,965	A/G	—	benign
rs1288186108	X:130,411,006	C/T	—	uncertain significance
rs747906302	X:130,411,036	C/G	—	uncertain significance
rs771739503	X:130,411,038	C/T	—	uncertain significance
rs1302357666	X:130,411,114	G/T	—	uncertain significance
rs1298201857	X:130,411,140	C/T	—	uncertain significance
rs2124091516	X:130,411,178	G/C	—	uncertain significance
rs376149601	X:130,411,824	C/T	—	likely benign
rs1603404413	X:130,411,847	A/G	—	pathogenic
rs767364150	X:130,411,849	C/T	—	likely benign
rs762143558	X:130,411,850	G/A	—	likely benign
rs778830663	X:130,411,917	C/T	—	uncertain significance
rs398122920	X:130,411,917	—	—	pathogenic
rs758261526	X:130,411,930	C/T	—	uncertain significance
rs144472463	X:130,412,002	C/T	—	benign
rs146715796	X:130,412,018	C/G	—	benign
rs2522216796	X:130,412,100	G/T	—	uncertain significance
rs4524963	X:130,412,178	C/G	—	benign
rs3810725	X:130,412,411	C/T	—	benign
rs1435353920	X:130,412,478	C/T	—	uncertain significance
rs2124097454	X:130,412,510	C/T	—	pathogenic
rs372420485	X:130,412,521	T/C	—	likely benign
rs1452430983	X:130,412,551	C/T	—	uncertain significance
rs1294812060	X:130,412,552	G/A	—	uncertain significance
rs1489517476	X:130,412,569	G/A	—	uncertain significance
rs1432811659	X:130,412,658	C/T	—	uncertain significance
rs780114018	X:130,412,664	C/T	—	likely benign
rs146462069	X:130,412,680	T/G	—	benign
rs766142659	X:130,412,697	C/A	—	uncertain significance
rs778342386	X:130,412,703	C/G	—	uncertain significance
rs757277380	X:130,413,173	A/C	—	uncertain significance
rs2522231074	X:130,413,254	G/A	—	uncertain significance
rs1348743504	X:130,413,275	G/A	—	uncertain significance
rs2522231500	X:130,413,290	G/A	—	uncertain significance
rs200369168	X:130,413,296	T/A	—	likely benign
rs10521765	X:130,413,442	G/C	—	benign
rs139821381	X:130,415,208	G/A	—	likely benign
rs2522246692	X:130,415,224	C/T	—	likely pathogenic
rs375801342	X:130,415,259	T/C	—	likely benign
rs758546152	X:130,415,280	C/T	—	likely benign
rs370349619	X:130,415,292	C/T	—	likely benign
rs192818408	X:130,415,315	G/A	—	benign
rs1159295558	X:130,415,669	C/T	—	uncertain significance
rs200210980	X:130,415,673	G/T	—	likely benign
rs149158944	X:130,415,704	G/A	—	likely benign
rs2522251442	X:130,415,711	C/T	—	uncertain significance
rs1128617	X:130,415,818	T/C	—	benign
rs2522252826	X:130,415,835	A/T	—	uncertain significance
rs1293658262	X:130,415,841	G/A	—	likely pathogenic

Showing 100 of 150 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.